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PGD ( preimplantation genetic diagnosis) to prevent genetic diseases

Posted Aug 06 2014 1:04am

A child with a genetic disease ( such as thalassemia, DMD, hemophila and sickle cell anemia) represents a major family tragedy. While parents will spend a lot of time, love and energy in ensuring that this child gets the best possible medical care, they are also understandably very worried about the risk of the next child having the same genetic  disease.

In the past, we could use PND ( prenatal diagnosis) to determine if the fetus was normal or not.  However, if the fetus was abnormal, then parents would be forced to terminate a pregnancy –  an idea which quite abhorrent to many couples.

Today,  thanks to advances in IVF and genetics, PGD ( preimplantation genetic diagnosis) is a very valuable technique which can help to prevent genetic diseases.

PGD can be quite complicated process, and there’s still a lot of confusion about the details.

This is true for many reasons.

For one, PGD requires a combination of 2 complex procedures and 2 specialty teams – the IVF lab and the genetic specialists. Often, the IVF doctor may not understand much about the genetic testing which is needed, just like the genetics lab may not understand much about the IVF process. This means that often the right hand does not know what the left hand is doing , which adds to the stress levels for the poor patient.

Also, most patients find the genetic terms used quite intimidating. These can be complex and it can take time to understand them, because there are so many new words you need to understand .

Here’s a bird’s eye view of what’s involved in a PGD cycle.

If you have a child with a well-defined genetic disease, please send me an email. I need to know your exact genetic diagnosis, and the tests which were performed to establish this. It is important that all reports ( of all family members) should be made available to us and sent together , in order to avoid misunderstandings and confusion.

You then need to send your blood to our genetic lab , who creates PGD testing probes for you. This is called “informative testing” and needs to be done before the PGD cycle can start.
We then do the IVF treatment cycle for you

The Day 5 embryos ( blastocysts) are biopsied and the blastomeres are sent to the genetic lab for genetic testing using the latest technique called NGS ( next generation sequencing)

All your embryos are frozen

When the results are back ( which can take upto 10 days), we call you back in the next cycle, thaw the normal embryos and then transfer them into you.

IVF/PGD treatment starts from Day 1 ( the day the bleeding starts) of your cycle. At
This time, we downregulate you by starting you on Inj Lupride
GnRH analog mfr by Sun Pharma) , 0.2 ml sc daily . On Day 3, you need to do an
Ultrasound scan to confirm there is no ovarian cyst, after which we start
Your superovulation with 4 ampoules of HMG  (Menogon) daily.

4 ampuoles is 300 IU of HMG daily . You need to dissolve 4 vials of the powder in 1 solvent and take it IM
You can learn how to take your injections at www.drmalpani.com/injections.htm

The dose of HMG will
Depend upon your ovarian morphology and your antral follicle count.


We do the next scan on Day 10, after which you would have to be in Bombay
For about 10 days. Your husband is needed on Day 14-Day 16 ( the day of the
Egg pickup). All the treatment is performed at our clinic, which means you
Never have to go elsewhere.

This is what the daily schedule would look like.

Day 1. Inj Lupride, 0.2 ml sc. ( Downregulation starts)
Day 2. Inj Lupride, 0.2 ml sc.
Day 3. Inj Lupride, 0.2 ml sc. Vaginal ultrasound scan to confirm there is no ovarian cyst. If there is no cyst, we can commence superovulation.
If there is a cyst, we aspirate/ puncture it under ultrasound guidance and continue with the treatment.
Day 4 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM. Superovulation starts.
Day 5 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM
Day 6 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM
Day 7 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM
Day 8 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM
Day 9 Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM
Day 10. Inj Lupride, 0.2 ml sc. Inj Menogon ( 75 IU), 4 amp IM.
Vaginal ultrasound scan to monitor follicular growth
The Lupride and Menogon injections will continue on a daily basis; and scans will be performed every alternate day, until the follicles are mature. This is usually Day 14- Day 16 for most patients. At this time, an HCG injection will be given, and eggs retrieved 36 hours after this.

The embryo biopsy is done; the blastomeres sent for genetic testing; and all the embryos are frozen

You can print out an IVF calendar (  of a typical IVF cycle ) at
www.ivfindia.com/ivfcalendar.php

I need the results of ALL the following simple medical tests before starting
An IVF /PGD cycle.

1.    Semen analysis for your husband ( to check his sperm count and motility);
2.    2. Blood tests for you for the following reproductive hormones – FSH ( follicle-stimulating hormone),LH ( luteinizing hormone),PRL ( prolactin) , AMH ( anti-Mullerian hormone) and TSH ( thyroid stimulating hormone) on Day 3 of your cycle, ( to check the quality of your eggs). Do this from a reliable lab such as SRL ( www.srl.in);
3.     A vaginal ultrasound scan on Day 10 or 11 which should check for the following.
a.    Ovarian volume
b.    B. antral follicle count
c.    C. uterus morphology
d.    D. endometrial thickness and texture
Please send me the ALL the detailed test results and medical reports . You can scan them in as a single Word file and email them to me.

If the tests have been done in the past one year, there is no need to repeat them.
If there is a problem, then we can treat it prior to starting IVF !

When the genetic results are back ( in a few weeks), the embryos are thawed and embryo transfer is performed .

We understand this is a complex, time consuming process which can be quite confusing. Please rest assured that we are here to hold your hand through this journey and will do our best to give you a healthy baby.


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